RESUMEN
BACKGROUND: The human genome is the complete set of genetic instructions encoded in an individual's DNA. Genetics plays an important role in the development and progression of muscle injuries. Many genes are involved in muscle development, growth, and repair, and variations in these genes can affect an athlete's susceptibility to muscle injury. SPECIFIC GENES: Several genes have been linked to muscle injury, such as myostatin (MSTN), insulin-like growth factor 1 (IGF-1), and several collagen genes (COL). In addition to genes involved in muscle development, growth, and repair, genes involved in inflammation and pain signaling, such as tumor necrosis factor alpha (TNF-α), mu opioid receptor (OPRM1), and interleukin (IL) genes, may also play a role in the development and progression of muscle injury. GENETIC TESTS: Genetic testing can be a helpful tool in the prevention of muscle injuries in athletes. Testing for variations in genes associated with muscle development, repair, and growth, as well as collagen formation, can provide valuable information about an athlete's susceptibility to muscle injury. It is important to note that while genetic testing can provide valuable information for injury prevention, it is only one piece of the puzzle. Other factors such as an individual's training history, general health, and lifestyle habits also play a role in injury risk. Therefore, all injury prevention strategies should be individualized and based on a comprehensive assessment of all relevant factors.
Asunto(s)
Traumatismos en Atletas , Deportes , Humanos , Traumatismos en Atletas/genética , Músculos , Pruebas Genéticas , Colágeno/genéticaRESUMEN
This article provides a critical overview of the ethics and governance of genetic biobank research, using the Athlome Consortium as a large scale instance of collaborative sports genetic biobanking. We present a traditional model of written informed consent for the acquisition, storage, sharing and analysis of genetic data and articulate the challenges to it from new research practices such as genetic biobanking. We then articulate six possible alternative consent models: verbal consent, blanket consent, broad consent, meta consent, dynamic consent and waived consent. We argue that these models or conceptions of consent must be articulated in the context of the complexities of international legislation and non legislative national and international biobank governance frameworks and policies, those which govern research in the field of sports genetics. We discuss the tensions between individual rights and public benefits of genomic research as a critical ethical issue, particularly where benefits are less obvious, as in sports genomics. The inherent complexities of international regulation and biobanking governance are challenging in a relatively young field. We argue that there is much nuanced ethical work still to be done with regard to governance of sports genetic biobanking and the issues contained therein.
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Bancos de Muestras Biológicas/ética , Investigación Genética/ética , Consentimiento Informado , Humanos , Colaboración IntersectorialRESUMEN
Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition, and elite/world-class athletic status, there has been limited progress to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic association is often smaller than initially anticipated, and, as such, large sample sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14-17 May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium.